Article
Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction.
Pediatric endocrinology reviews : PER - 1 Jun 2005
De Baere Elfride, Copelli Silvia, Caburet Sandrine, Laissue Paul, Beysen Diane, Christin-Maitre Sophie, Bouchard Philippe, Veitia Reiner, Fellous Marc
Abstract excerpt
Recently the molecular basis of the blepharophimosis-ptosis-epicanthus inversus-syndrome (BPES), an autosomal dominant developmental disorder of the eyelids and ovary, was elucidated. This syndromic form of premature ovarian failure (POF) is caused by mutations in the gene encoding the forkhead transcription factor FOXL2. In this manuscript we review the clinical features of BPES, its molecular basis, the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.